Linked Data
ClinVar Variation Id:
230673
ClinVar RCV Id:
RCV000213237
RCV000225855
RCV000519956
RCV000762984
RCV001814122
RCV003315237
RCV003469010
dbSNP Id:
rs778405030
ExAC:
17:29533315 C / T
gnomAD v2:
17-29533315-C-T
gnomAD v4:
17-31206297-C-T
MyVariant Identifiers:
chr17:g.29533315C>T (hg19)
chr17:g.29533315_29533321delinsTGAAATA (hg19)
chr17:g.31206297C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31206297C>T , CM000679.2:g.31206297C>T | GRCh38 |
| NC_000017.10:g.29533315C>T , CM000679.1:g.29533315C>T | GRCh37 |
| NC_000017.9:g.26557441C>T | NCBI36 |
| NG_009018.1:g.116321C>T , LRG_214:g.116321C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.1318C>T | ENSP00000512431.1:p.Arg440Ter | |
| ENST00000686189.1:c.763C>T | ENSP00000509682.1:p.Arg255Ter | |
| ENST00000691014.1:c.1348C>T | ENSP00000510595.1:p.Arg450Ter | |
| ENST00000358273.9:c.1318C>T MANE Select | ENSP00000351015.4:p.Arg440Ter | |
| ENST00000356175.7:c.1318C>T | ENSP00000348498.3:p.Arg440Ter | |
| ENST00000358273.8:c.1318C>T | ENSP00000351015.4:p.Arg440Ter | |
| ENST00000431387.8:c.1318C>T | ENSP00000412921.4:p.Arg440Ter | |
| ENST00000456735.6:c.316C>T | ENSP00000389907.2:p.Arg106Ter | |
| ENST00000487476.5:n.1701C>T | ||
| ENST00000495910.6:c.1093C>T | ||
| ENST00000579081.5:c.1420C>T | ENSP00000462408.1:p.Arg474Ter | |
| NM_000267.3:c.1318C>T , LRG_214t1:c.1318C>T | NP_000258.1:p.Arg440Ter | |
| NM_001042492.2:c.1318C>T , LRG_214t2:c.1318C>T | NP_001035957.1:p.Arg440Ter | |
| NM_001128147.2:c.1318C>T | NP_001121619.1:p.Arg440Ter | |
| XM_005257983.1:c.1318C>T | XP_005258040.1:p.Arg440Ter | |
| XM_005257984.1:c.1318C>T | XP_005258041.1:p.Arg440Ter | |
| XM_006721922.1:c.1348C>T | XP_006721985.1:p.Arg450Ter | |
| XM_006721923.2:c.1309C>T | XP_006721986.1:p.Arg437Ter | |
| XM_006721924.1:c.1348C>T | XP_006721987.1:p.Arg450Ter | |
| XM_006721925.1:c.1348C>T | XP_006721988.1:p.Arg450Ter | |
| XM_006721926.2:c.1348C>T | XP_006721989.1:p.Arg450Ter | |
| XM_006721927.1:c.1348C>T | XP_006721990.1:p.Arg450Ter | |
| XM_006721928.2:c.1348C>T | XP_006721991.1:p.Arg450Ter | |
| XM_011524852.1:c.1348C>T | XP_011523154.1:p.Arg450Ter | |
| XM_011524853.1:c.1309C>T | XP_011523155.1:p.Arg437Ter | |
| XM_011524854.1:c.1309C>T | XP_011523156.1:p.Arg437Ter | |
| XM_011524855.1:c.1309C>T | XP_011523157.1:p.Arg437Ter | |
| XM_011524856.1:c.1309C>T | XP_011523158.1:p.Arg437Ter | |
| XM_011524857.1:c.1348C>T | XP_011523159.1:p.Arg450Ter | |
| NM_001042492.3:c.1318C>T MANE Select | NP_001035957.1:p.Arg440Ter | |
| NM_001128147.3:c.1318C>T | NP_001121619.1:p.Arg440Ter |